Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Val747AlafsTer20 (p.V747Afs*20)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Val747AlafsTer20 (p.V747Afs*20) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val1090Met (p.V1090M) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Pro923Leu (p.P923L) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Lys902Arg (p.K902R) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val867Leu (p.V867L) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val867Met (p.V867M) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg865His (p.R865H) ( ENST00000334602.10, ENST00000310581.10 )
TERT c.2583-2A>G ( ENST00000310581.10, ENST00000334602.10 )
TERT c.2583-2A>C ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val791Ile (p.V791I) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Tyr772Cys (p.Y772C) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala716Thr (p.A716T) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val694Met (p.V694M) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.His412Tyr (p.H412Y) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala202Thr (p.A202T) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val170Met (p.V170M) ( ENST00000310581.10, ENST00000334602.10 )
TERT c.219+1G>A ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Leu55Gln (p.L55Q) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val1090Met (p.V1090M) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Pro923Leu (p.P923L) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Lys902Arg (p.K902R) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val867Leu (p.V867L) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val867Met (p.V867M) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg865His (p.R865H) ( ENST00000310581.10, ENST00000334602.10 )
TERT c.2583-2A>G ( ENST00000310581.10, ENST00000334602.10 )
TERT c.2583-2A>C ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val791Ile (p.V791I) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Tyr772Cys (p.Y772C) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala716Thr (p.A716T) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val694Met (p.V694M) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.His412Tyr (p.H412Y) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala202Thr (p.A202T) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val170Met (p.V170M) ( ENST00000310581.10, ENST00000334602.10 )
TERT c.219+1G>A ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Leu55Gln (p.L55Q) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs